Five novel mutations in the L1CAM gene in families with X linked hydrocephalus.

doi:10.1136/jmg.33.2.103

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Article

Five novel mutations in the L1CAM gene in families with X linked hydrocephalus.

Journal of medical genetics - 1 Feb 1996

Gu S M, Orth U, Veske A, Enders H, Klunder K, Schlosser M, Engel W, Schwinger E, Gal A

Abstract excerpt

Five novel mutations have been identified in the gene encoding L1CAM, a neural cell adhesion protein, in families with X linked hydrocephalus (XHC). Interestingly, all five mutations are in the evolutionarily highly conserved Ig-like domains of the protein. The two frameshift mutations (52insC an...

Topics

Abnormalities, Multiple
Agenesis of Corpus Callosum
Alleles
Amino Acid Sequence
Base Sequence
DNA Mutational Analysis
Female
Fetal Diseases
Frameshift Mutation
Genes
Humans
Hydrocephalus

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Infant, Newborn

Intellectual Disability

Leukocyte L1 Antigen Complex

Male

Molecular Sequence Data

Mutation

Source

Open in PubMed Open full text

Identifiers

PMID: 8929944
DOI: 10.1136/jmg.33.2.103
PMCID: PMC1051833

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-8929944-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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